The Role of Genetic Testing in the Ophthalmic Practice
Bryan M. Rogoff, OD, MBA, CPHM, FAAO
The predictive statistics of eye disease are becoming easier with genetic testing and are becoming a standard of practice for some eye care practitioners. While some forms of genetic testing have been around since the 1950s, it now has capabilities of testing more than 2,000 conditions from over 500 laboratories in the US.1 Physicians use genetic testing for a variety of purposes, including diagnostic, pre-symptomatic, carrier, prenatal, pre-implantation, newborn, pharmacogenetics, and for research.1 The Human Genome Project was launched in the 1990s and completed in 2003 to determine the human DNA sequence, locate and identify genes from a physical and functional standpoint.2 This was a multi-governmental sponsored project that included the United States, Japan, United Kingdom, France, Germany, and China, which has benefited research in molecular medicine to understand mutations of cancer, genotyping viruses, forensic studies, and other forms of DNA-based research.3 Today, approximately 500 genes have been identified that contribute to eye diseases and ECPs should understand when and how to use this type of testing.3
Even though there are over 500 genes identified to eye disease, practitioners should understand when to start thinking about genetic testing. Early-onset glaucoma and optic nerve disease, autoimmune retinopathy, and strabismus are just a few diagnoses to consider for testing, along with other Mendelian disorders such as sickle-cell anemia and xeroderma pigmentosa, which may cause retinal degenerations.4 The American Journal of Ophthalmology published a study earlier this year regarding the predictive value of genetic testing for inherited retinal disease (IRD) with suspect atypical autoimmune retinopathy (AIR) that concluded genetic testing is a valuable tool to identify IRD but has a low negative predictive value to confidently predict diagnosis.5 With glaucoma patients, specifically with pediatric glaucoma, adults less than 50 years of age who have glaucoma (with a positive family history), and patients who present with optic nerve disease (with a positive family history of low tension glaucoma) should be tested for a Genetic Eye Disease Panel (GEDi-O) (CPT code 81479, Tier 2 Molecular Pathology Procedure). Although testing does not change the current standard therapeutic treatment plan if the genetic test comes back positive, counseling should include testing family members that can be identified as carriers. It has been known for some time that patients with corneal dystrophies such as Lattice, Granular, Reis-Bucklers, Thiel Behnke, Fuchs Endothelial, and others should also be genetically tested to have similar counseling.6 Also, esotropic patients (with a positive family history of esotropia) have been linked to 8 specific gene variants regarding the cranial dysinnervation of the motor neurons and how they develop, which was published by ScienceDaily in 2018.7
The National Institutes of Health (NIH) has built the Genetic Test Registry, a free resource for both providers and patients to have “personalized medicine,” which is also reducing the costs of genetic testing.8 The registry also provides a depository for private companies to voluntarily submit testing results that provides details such as purpose, target populations, methods, and analytical, clinical validity.9 23andMe, deCODEme, and Easy DNA markets direct-to-consumer about genetic testing, giving patients a personalized approach of determining their own risk of a certain disease, such as Age-Related Macular Degeneration (ARMD).10 Even though patients are becoming more aware of their own, personal genetic code, clinical applications are still being developed. Last month, 23andMe announced that the company would be moving towards more clinical trial recruitment with TrialSpark that will hopefully address the geographic demographics challenge to clinical validity. This partnership would allow 23andMe to enter the drug development industry and partner with other pharmaceutical companies, universities, and non-profit groups to help find suitable participants for clinical studies.11
Bryan M. Rogoff, OD, MBA, CPHM has a unique background in areas of holistic eye care, business management and healthcare reform. He specializes in LEAN clinical management and operations, technology implementation, healthcare strategy, and strategic partnerships. Currently, he serves as a consultant for for the FDA, Immediate Past-President & Education Chairperson for the Maryland Optometric Association, Federal Keyperson and Meetings Committee Member for the American Optometric Association, reviewer for the Council on Optometric Practitioner Education and is the Founder of Eye-Exec Consulting, LLC. To contact Bryan, visit www.eye-exec.com or email firstname.lastname@example.org. He can also be found on LinkedIn, Facebook, Twitter and Instagram.